Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China;2. BGI-Shenzhen, Shenzhen, China;3. China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China;4. Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China;5. Key Laboratory of Cooperation Project in Guangdong Province, Guangdong, China;6. China Clinical Lab of Beijing, BGI-Health, Beijing, China;7. Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China;8. Research and Development, BGI-Health, Shenzhen, China;9. Guangdong Provincial Key Laboratory of Human Diseases Genome, Guangdong, China |
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| Abstract: | PurposeThis article demonstrates a prominent noninvasive prenatal approach to assist the clinical diagnosis of a single-gene disorder disease, maple syrup urine disease, using targeted sequencing knowledge from the affected family.MethodsThe method reported here combines novel mutant discovery in known genes by targeted massively parallel sequencing with noninvasive prenatal testing.ResultsBy applying this new strategy, we successfully revealed novel mutations in the gene BCKDHA (Ex2_4dup and c.392A>G) in this Chinese family and developed a prenatal haplotype-assisted approach to noninvasively detect the genotype of the fetus (transmitted from both parents).ConclusionThis is the first report of integration of targeted sequencing and noninvasive prenatal testing into clinical practice. Our study has demonstrated that this massively parallel sequencing–based strategy can potentially be used for single-gene disorder diagnosis in the future. |
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